{"id":4816,"date":"2023-03-03T21:59:47","date_gmt":"2023-03-03T21:59:47","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=4816"},"modified":"2026-06-22T20:07:13","modified_gmt":"2026-06-22T20:07:13","slug":"cuando-sospechar-un-error-congenito-del-metabolismo","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/fr\/cuando-sospechar-un-error-congenito-del-metabolismo\/","title":{"rendered":"Quand devons-nous soup\u00e7onner une erreur cong\u00e9nitale du m\u00e9tabolisme ?"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Los errores cong\u00e9nitos del metabolismo son enfermedades habitualmente de herencia autos\u00f3mico recesiva (aunque existen <a href=\"http:\/\/neuropediatoolkit.org\/enfermedades-metabolicas-ligadas-al-x\/\">algunos de herencia ligada al X<\/a>), y que en algunos casos son <a href=\"http:\/\/neuropediatoolkit.org\/protocolo-de-causas-tratables\/\">susceptibles de tratamiento curativo<\/a>, motivo por el que es importante identificarlos precozmente. <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Antecedentes familiares de aborto o mortalidad infantil no explicada.<\/li>\n\n\n\n<li>Antecedentes familiares de trastornos del neurodesarrollo con&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/patrones-de-herencia\/\">patr\u00f3n autos\u00f3mico recesivo<\/a>&nbsp;(hermanos).<\/li>\n\n\n\n<li>Historia de&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/consanguinidad\/\">consanguinidad<\/a>.<\/li>\n\n\n\n<li>Antecedentes gestacionales de hepatopat\u00eda (HELLP, higado graso agudo del embarazo).<\/li>\n\n\n\n<li>Historia neonatal de:\n<ul class=\"wp-block-list\">\n<li>Sepsis sin evidencia de infecci\u00f3n.<\/li>\n\n\n\n<li>Problemas de alimentaci\u00f3n, fallo de medro, v\u00f3mitos de repetici\u00f3n, hepatopat\u00eda.<\/li>\n\n\n\n<li>Letargia, hipoton\u00eda, encefalopat\u00eda progresiva, epilepsia neonatal.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Curso progresivo en la infancia,&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/pind-progressive-intellectual-and-neurological-deterioration\/\">regresi\u00f3n del desarrollo<\/a>.<\/li>\n\n\n\n<li>Trastornos del movimiento asociado (ataxia, diston\u00eda).<\/li>\n\n\n\n<li>Datos de la&nbsp;<a href=\"http:\/\/neuropediatoolkit.org\/treatable-id\/\">exploraci\u00f3n cl\u00ednica<\/a>:\n<ul class=\"wp-block-list\">\n<li>Neurol\u00f3gicos.\n<ul class=\"wp-block-list\">\n<li>Trastorno del movimiento (ataxia, diston\u00eda, corea).<\/li>\n\n\n\n<li>Epilepsia farmacorresistente, especialmente si miocl\u00f3nica y temprana.<\/li>\n\n\n\n<li>Microcefalia o macrocefalia.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>No neurol\u00f3gicos.\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/facies-tosca\/\">Facies tosca.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/enfermedades-metabolicas-con-dismorfia\/\">Otras dismorfias.<\/a><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>Ausencia de otra causa explicable.<\/li>\n\n\n\n<li>S\u00edntomas recurrentes precipitados por episodios catab\u00f3licos (infecci\u00f3n, ejercicio, ayuno) o ciertos alimentos o medicaciones.<\/li>\n\n\n\n<li>Aversi\u00f3n a determinados alimentos.<\/li>\n\n\n\n<li>Intolerancia al ejercicio.<\/li>\n\n\n\n<li>Hepatoesplenomegalia<\/li>\n<\/ul>\n\n\n<div id=\"zotpress-d4e2c8cd1acddbea912313c8f718fc14\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{19955111:RHPA4Q2C}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span 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id=\"zp-ID-4816-19955111-RHPA4Q2C\" data-zp-author-date='-2017-06-05' data-zp-date-author='2017-06-05-' data-zp-date='2017-06-05' data-zp-year='2017' data-zp-itemtype='webpage' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Developmental delay: when to suspect and how to investigate for an inborn error of metabolism | Archives of Disease in Childhood [Internet]. 2017 [cited 2017 June 5]. Available from: <a class='zp-ItemURL' href='http:\/\/adc.bmj.com\/content\/90\/11\/1128'>http:\/\/adc.bmj.com\/content\/90\/11\/1128<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>Les erreurs cong\u00e9nitales du m\u00e9tabolisme sont des maladies habituellement d'h\u00e9ritage autosomique r\u00e9cessive (malgr\u00e9 l'existence de certains li\u00e9s au X), et qui dans certains cas sont susceptibles de traitement curatif, ce qui est important pour identifier les plus t\u00f4t.<\/p>","protected":false},"author":1,"featured_media":4817,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[7],"tags":[],"class_list":["post-4816","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-metabolismo","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/4816","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/comments?post=4816"}],"version-history":[{"count":12,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/4816\/revisions"}],"predecessor-version":[{"id":8426,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/4816\/revisions\/8426"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media\/4817"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media?parent=4816"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/categories?post=4816"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/tags?post=4816"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}